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Erschienen in: Digestive Diseases and Sciences 1/2014

01.01.2014 | Original Article

Exome Sequencing Revealed Novel Germline Mutations in Chinese Peutz–Jeghers Syndrome Patients

verfasst von: Huan-Huan Wang, Na-Na Xie, Qi-Yuan Li, Yi-Qun Hu, Jian-Lin Ren, Bayasi Guleng

Erschienen in: Digestive Diseases and Sciences | Ausgabe 1/2014

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Abstract

Background and Aims

Peutz–Jeghers Syndrome (PJS) is an autosomal dominant disorder which predisposes to the development of various cancers. Germline mutation in the serine/threonine kinase 11 gene (STK11) is known as one of the major causes of PJS. However, a notable proportion of PJS samples do not carry any mutation in STK11, suggesting possible genetic heterogeneity in the disease and the existence of other causative variants.

Methods and Results

In order to identify other germline variants in the coding regions of the genome that are associated with PJS, we performed exome sequencing in three Chinese individuals with PJS and identified 16 common germline variants (12 protein-coding including STK11, 4 in pre-microRNAs). We further validated protein-coding variants in six PJS individuals (three with wild-type STK11) and predicted the functional impact. As result, we found that 7 coding variants are likely to have functional impacts. Especially, we identified 2 new germline variants which are represented in all six PJS samples and are independent of STK11 mutation.

Conclusions

Our study provided an exomic view of PJS. The germline variants identified in our analysis may help to resolve the complex genetic background of the disease and thus lead to the discovery of novel causative variants of PJS.
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Metadaten
Titel
Exome Sequencing Revealed Novel Germline Mutations in Chinese Peutz–Jeghers Syndrome Patients
verfasst von
Huan-Huan Wang
Na-Na Xie
Qi-Yuan Li
Yi-Qun Hu
Jian-Lin Ren
Bayasi Guleng
Publikationsdatum
01.01.2014
Verlag
Springer US
Erschienen in
Digestive Diseases and Sciences / Ausgabe 1/2014
Print ISSN: 0163-2116
Elektronische ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-013-2875-7

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